Rhabdomyolysis and metabolic muscle disorders
Gene: GYS1

GYS1 (glycogen synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 8 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, muscle

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jul 2017, 3:24 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least four variants reported in three cases (two homozygote and one compound heterozygote). Supportive in vitro studies reported and considerable evidence of GYS1 variants in equine rhabdomyolysis
Created: 5 Dec 2016, 10:34 a.m.

Comment on publications: PMID 21958591 reports compound heterozygous variants in one fatal case, in vitro studies included
Created: 5 Dec 2016, 10:31 a.m.

Created: 5 Dec 2016, 10:31 a.m.

Panel version: 0.72

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Literature
Emory Genetics Laboratory
UKGTN

Phenotypes

Glycogen storage disease 0, muscle, OMIM:611556

OMIM

138570

Clinvar variants

Variants in GYS1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GYS1 were changed from Glycogen storage disease 0, muscle 611556 to Glycogen storage disease 0, muscle, OMIM:611556

18 Jul 2017, Gel status: 4